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• 札幌医科大学   医学部 産婦人科学講座   助教  

• 札幌医科大学   遺伝子診療科   助教  

• 藤田医科大学   医科学研究センター分子遺伝学研究部門   客員助教  

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• The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population.

  Masashi Idogawa, Tasuku Mariya, Yumi Tanaka, Tsuyoshi Saito, Hiroshi Nakase, Takashi Tokino, Akihiro Sakurai

  Journal of human genetics    2024年02月  [国際誌]

  　概要を見る

  Hereditary breast and ovarian cancer syndrome (HBOC) resulting from pathogenic variants of BRCA1 or BRCA2 is the most common and well-documented hereditary tumor. Although founder variants have been identified in population-based surveys in various countries, the types of variants are not uniform across races and regions. Recently, the Tohoku Medical Megabank Organization (ToMMo) released whole-genome sequence data including approximately 54,000 individuals from the general population of the Tohoku area in Japan. We analyzed these data and comprehensively identified the prevalence of BRCA1/2 pathogenic and truncating variants. We believe that an accurate understanding of the unique distribution and characteristics of pathogenic BRCA1/2 variants in Japan through this analysis will enable better surveillance and intervention for HBOC patients, not only in Japan but also worldwide.

  DOI PubMed

• Pregnancy-specific beta-1-glycoprotein 6 is a potential novel diagnostic biomarker of placenta accreta spectrum.

  Hazuki Kashiwagi, Tasuku Mariya, Mina Umemoto, Shiori Ogawa, Yoshihiko Hirohashi, Yuya Fujibe, Terufumi Kubo, Masayuki Someya, Tsuyoshi Baba, Shinichi Ishioka, Toshihiko Torigoe, Tsuyoshi Saito

  Medical molecular morphology    2023年10月  [国内誌]

  　概要を見る

  Early diagnosis is essential for the safer perinatal management of placenta accreta spectrum (PAS). We used transcriptome analysis to investigate diagnostic maternal serum biomarkers and the mechanisms of PAS development. We analyzed eight formalin-fixed paraffin-embedded placental specimens from two placenta increta and three placenta percreta cases who underwent cesarean hysterectomy at Sapporo Medical University Hospital between 2013 and 2019. Invaded placental regions were isolated from the uterine myometrium and RNA was extracted. The transcriptome difference between normal placenta and PAS was analyzed by microarray analysis. The PAS group showed markedly decreased expression of placenta-specific genes such as LGALS13 and the pregnancy-specific beta-1-glycoprotein (PSG) family. Term enrichment analysis revealed changes in genes related to cellular protein catabolic process, female pregnancy, autophagy, and metabolism of lipids. From the highly dysregulated genes in the PAS group, we investigated the expression of PSG family members, which are secreted into the intervillous space and can be detected in maternal serum from the early stage of pregnancy. The gene expression level of PSG6 in particular was progressively decreased from placenta increta to percreta. The PSG family, especially PSG6, is a potential biomarker for PAS diagnosis.

  DOI PubMed

• Endocrinological and Metabolic Heterogeneity is low in Japanese Women with Polycystic Ovary Syndrome.

  Tsuyoshi Baba, Toshiaki Endo, Tasuku Mariya, Yoshika Kuno, Hiroyuki Honnma, Mika Kanaya, Tsuyoshi Saito

  Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC     102217 - 102217  2023年09月  [国際誌]

  　概要を見る

  OBJECTIVE: This study aims to evaluate the endocrine differences among polycystic ovary syndrome (PCOS) phenotypes in Japanese women. METHODS: 118 Japanese women that we diagnosed with PCOS agreed to be included in the study. The study group was classified into the following four phenotypes: A) hyperandrogenism (HA); ovulatory disorder (OvD) and polycystic ovary morphology (PCOM); B) HA and OvD; C) HA and PCOM; and D) OvD and PCOM. We also recruited 66 healthy Japanese women to the study as control participants. Age, body mass index, androgens, luteinizing hormone, follicle-stimulating hormone, and insulin resistance index were evaluated and compared. RESULTS: The proportions of phenotypes A, B, C, and D were 57/120 (47.5%), 4/120 (3.3%), 13/120 (10.8%), and 46/120 (38.3%), respectively. The proportion of phenotype B was too small; therefore, phenotypes A and B were grouped as classical PCOS for intergroup comparisons. The luteinizing hormone/follicle-stimulating hormone ratio in the classical PCOS group was higher than that in the phenotype D group (P < 0.001). Androgen concentrations in the phenotype D group were significantly lower than those in the other groups (P < 0.01). Phenotype D was more common in lean women with PCOS. The surrogate marker of insulin resistance (homeostasis model assessment of insulin resistance (HOMA-IR)) was not different irrespective of PCOS and its phenotypes. CONCLUSION: Except for androgens, endocrine differences by PCOS phenotype are not evident, suggesting that diversity among patients with PCOS is relatively low in Japanese women.

  DOI PubMed

• Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm.

  Takeshi Sugimoto, Hidehito Inagaki, Tasuku Mariya, Rie Kawamura, Mariko Taniguchi-Ikeda, Seiji Mizuno, Yukako Muramatsu, Ikuya Tsuge, Hirofumi Ohashi, Nakamichi Saito, Yuiko Hasegawa, Nobuhiko Ochi, Masatoshi Yamaguchi, Jun Murotsuki, Hiroki Kurahashi

  Human genetics    2023年08月  [国際誌]

  　概要を見る

  Constitutional complex chromosomal rearrangements (CCRs) are rare cytogenetic aberrations arising in the germline via an unknown mechanism. Here we analyzed the breakpoint junctions of microscopically three-way or more complex translocations using comprehensive genomic and epigenomic analyses. All of these translocation junctions showed submicroscopic genomic complexity reminiscent of chromothripsis. The breakpoints were clustered within small genomic domains with junctions showing microhomology or microinsertions. Notably, all of the de novo cases were of paternal origin. The breakpoint distributions corresponded specifically to the ATAC-seq (assay for transposase-accessible chromatin with sequencing) read data peak of mature sperm and not to other chromatin markers or tissues. We propose that DNA breaks in CCRs may develop in an accessible region of densely packaged chromatin during post-meiotic spermiogenesis.

  DOI PubMed

• Changes in preterm and extremely preterm birth rates in Japan after the introduction of obstetrical practice guidelines in 2008.

  Satoshi Shimano, Takashi Yamada, Kazutoshi Cho, Kazuo Sengoku, Tasuku Mariya, Tsuyoshi Saito

  The journal of obstetrics and gynaecology research    2023年07月  [国際誌]

  　概要を見る

  AIM: Obstetrical guidelines were established in Japan in 2008, and obstetrical diagnoses and treatments were subsequently standardized nationally. We examined changes in the preterm birth rate (PTBR) and extremely preterm birth rate (EPTBR) following the introduction of such guidelines. METHODS: Information on 50 706 432 live births in Japan between 1979 and 2021, including Japanese reproductive medicine, the childbearing age of pregnant women, and the employment status of reproductive-age women between 2007 and 2020, were obtained from the Japanese government and academic societies. Regression analysis was used to compare chronological changes nationally and those of eight Japanese regions. Regional and national average PTBRs and EPTBRs from 2007 to 2020 were compared by using a repeated measures analysis of variance. RESULTS: From 1979 to 2007, PTBRs and EPTBRs in Japan increased significantly. However, from 2008, the national PTBR and EPTBR decreased until 2020 (p < 0.001) and 2019 (p = 0.02), respectively. From 2007 to 2020, overall PTBR and EPTBR were 5.68% and 0.255%, respectively. A significant difference in the PTBR and EPTBR existed between the eight Japanese regions. During this period, the number of pregnancies using assisted reproductive technology increased from 19 595 to 60 381, pregnant women became older, the employment rate of those of reproductive age increased, and nonregular employment was 54%, which was 2.5 times higher than for men. CONCLUSIONS: In Japan, after obstetrical guidelines were enacted in 2008, PTRBs decreased significantly even under the pressure of increasing preterm births. Countermeasures may be necessary for regions showing high PTBRs.

  DOI PubMed

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• 北海道では、妊娠初期全例での細菌性腟症(BV)スクリーニング・治療により、早産・超早産の有意な減少をみた

  島野 敏司, 山田 俊, 長 和俊, 千石 一雄, 田村 保明, 真里谷 奨, 斎藤 豪

  日本性感染症学会誌 ( (一社)日本性感染症学会 )  34 ( 2 ) 89 - 89  2023年11月

• 【婦人科悪性腫瘍手術-トラブルシューティングとその予防法-】単純外陰切除術

  齋藤 豪, 松浦 基樹, 玉手 雅人, 真里谷 奨

  産婦人科の実際 ( 金原出版(株) )  72 ( 12 ) 1397 - 1401  2023年11月

• 当院における婦人科癌に対するがん遺伝子パネル検査の現状と課題

  野藤 五沙, 真里谷 奨, 田中 佑弥, 室田 文子, 寺本 瑞絵, 松浦 基樹, 岩崎 雅宏, 石川 亜貴, 高田 弘一, 櫻井 晃洋, 齋藤 豪

  日本婦人科腫瘍学会学術講演会プログラム・抄録集 ( (公社)日本婦人科腫瘍学会 )  65回   288 - 288  2023年07月

• 【AIがもたらす婦人科癌医療の新展開】深層学習を利用したHE染色からの子宮内膜癌MMR status判定の可否に関する検討

  梅本 美菜, 真里谷 奨, 永田 舞, 堀米 俊弘, 新開 翔太, 杉田 真太朗, 金関 貴幸, 松浦 基樹, 岩崎 雅宏, 廣橋 良彦, 長谷川 匡, 藤野 雄一, 鳥越 俊彦, 齋藤 豪

  日本婦人科腫瘍学会学術講演会プログラム・抄録集 ( (公社)日本婦人科腫瘍学会 )  65回   153 - 153  2023年07月

• Aggressive angiomyxoma(AAM)合併妊娠の一例

  古来 愛香, 石岡 伸一, 新開 翔太, 常松 梨紗, 真里谷 奨, 染谷 真行, 松浦 基樹, 馬場 剛, 齋藤 剛

  日本周産期・新生児医学会雑誌 ( (一社)日本周産期・新生児医学会 )  59 ( Suppl.1 ) P438 - P438  2023年06月

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• 藤本征一郎賞（最優秀演題賞）

  2023年12月   第25回北海道出生前診断研究会   胚培養液中 cell-free lncRNA 発現プロファイルを根拠とした無侵襲着床前胚染色体異数性検査アルゴリズムの構築に関する検討  

  受賞者： 真里谷奨, 倉橋浩樹 他

• 最優秀演題賞

  2023年10月   第100回北海道産科婦人科学会・学術講演会   子宮内膜癌分子プロファイルのVirtual screeningシステム創出を目指した病理組織像のAI解析アルゴリズム構築について  

  受賞者： 真里谷奨, 梅本美菜, 他

• 優秀日本語演題賞

  2023年04月   第75回日本産科婦人科学会学術講演会   深層学習を用いたHE染色からの 子宮内膜癌分子生物学的プロファイル推定の適否に関する検討  

  受賞者： 梅本美菜, 真里谷奨 他

• 優秀演題

  2022年11月   第8回日本産科婦人科遺伝診療学会学術講演会   複雑なX染色体重複領域を伴う症例におけるロングリードシーケンサーを用いたPGT-Mセットアップについて  

  受賞者： 真里谷奨, 倉橋浩樹 他

• 高得点演題

  2022年   第64回日本婦人科腫瘍学会学術講演会   Label Smoothingを併用した2 段階CNNによる子宮頸部細胞診断支援アルゴリズムについて  

  受賞者： 梅本美菜, 真里谷奨 他

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• 子宮内免疫環境ならびに細菌叢解析に基づく新規子宮内炎症性病態の確立

  研究期間:

  2023年12月

  -

  2025年12月

   

  担当区分： 研究代表者

• 深層学習を用いた婦人科細胞診断支援装置の実装へ向けた研究

  基盤研究(C)

  研究期間:

  2023年04月

  -

  2026年03月

   

  新開 翔太, 鳥越 俊彦, 真里谷 奨, 藤野 雄一, 斉藤 豪

• 深層学習を用いた婦人科細胞診断支援装置の社会実装へ向けた研究

  研究期間:

  2022年04月

  -

  2024年03月

   

  担当区分： 研究代表者

• 北海道周産期・新生児WES・WGS検査解析プラットフォーム確立へ向けた至適実施体制構築に関する基盤的研究

  研究期間:

  2022年04月

  -

  2023年03月

   

  担当区分： 研究代表者

• 胚培養液を用いた非侵襲的着床前胚染色体異数体検査法

  研究期間:

  2022年04月

  -

  2023年03月

   

  担当区分： 研究代表者

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• 2024年02月

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  継続中

    評議員

• 2023年12月

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    代議員

• 2023年10月

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• 2021年04月

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